Faster, more accurate diagnosis for genetic disease reaches patients

It took Roy Boyes 40 years to get a diagnosis for his rare genetic disease, his condition was only given a name when whole genome analysis revealed Roy and his son Owen shared the same single gene mutation (both pictured right). Manchester has become the first NHS genetics service in the country to use genome DNA sequence analysis supported by Sapientia™, a world leading technology developed by Congenica. The two organisations are part the 100,000 Genomes Project and will feature in a display by Genomics England at the Health and Care Innovation Expo 2015 at Manchester Central, 2-3 September to show the future of diagnostics.

Professor Graeme Black, Professor of Genetics and Ophthalmology at Central Manchester University Hospitals NHS Foundation Trust (CMFT) (pictured top right with Congenica CEO Dr Tom Weaver), says the new approach to diagnosis will have an immediate benefit for patients and further improve the existing services.

He says; “Understanding why some changes in DNA cause disease and others have no impact is really challenging. Until now much of the analysis has been manual and done on a step-by-step basis, being able to automate the process so that it is easier for clinicians to reach a diagnosis is really exciting. With Sapientia you can look at the whole genome and see more quickly which single genes are associated with disease, this offers the opportunity to offer a diagnosis to more people, more quickly.”

Owen’s parents were aware that their son had health issues at six months when he had difficulties breathing, later he had other problems and at school was labelled ‘lazy’. When he was eleven Owen had his genome sequenced revealing a mutation in one gene. This mutation gave him the diagnosis of ‘Sotos Syndrome’ and the reason for his delayed development.

His mother Rachel says that having a diagnosis means that Owen can now get the support with his education that he needs and says that early diagnosis could have saved them from the ‘patient odyssey’ of tests and more tests. Interestingly Owen’s father, Roy shared the same mutation. Roy had always felt different to his peers and had missed out on his education, now after 40 years of searching he finally knows the reason why.

Whole genome sequencing isn’t cheap but with rare diseases, such as Owen, it is more cost effective. As Owen’s symptoms matched many diseases, so without whole genome analysis he would have been given a series of tests to eliminate each disease before the correct diagnosis was reached.

NHS Innovation Accelerator (NIA) fellow Andrea Haworth (left) is Head of Clinical Services at Congenica. She says: “Sapientia enables a tenfold increase in diagnostic yield, shorter test turnaround times, and improved clinical decision support for identifying disease-causing mutations. This will allow doctors to implement a more personalised management and treatment plan for the patient.”

Manchester Centre for Genomic Medicine and Congenica will be on the Genomics England stand at the Health Care Innovation conference explaining the process that a patient’s sample will take from sequencing and interpretation through to diagnostic in the clinic.

George Freeman MP, Minister for Life Sciences, Department of Health and Department for Business Innovation and Skills says: “Our investment in Genomics is about ensuring the UK leads the world in genomic science and medicine to develop more personalised treatments that can make a real difference to NHS patients. This partnership between the Manchester Centre for Genomic Medicine and Congenica is a great example of how the NHS is embracing pioneering technology to speed up the use of genome testing for patients and create new jobs in the North West.”

As not all gene mutations cause disease, it is vital to identify which changes are important. Sapientia notes and remembers all the mutations that lead to certain disease symptoms or ‘phenotype’ and retains this information in a knowledge-base.

To speed up this process hospital consultants such as those at the MGMC are working closely with Congenica to incorporate historic sequencing data into the platform. This is important in identifying gene-disease relationships.

Prof Black says; “We'll be working alongside Congenica to deliver the vision that NHS England and Genomics England have of using genomic testing to unlock the potential of genetic medicine to benefit our patients and transform the NHS.”